Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.
The Genetic Institute of Maccabi Health Medicinal Organization, Tel-Aviv, Israel.
Am J Med Genet A. 2022 Jul;188(7):1990-1996. doi: 10.1002/ajmg.a.62730. Epub 2022 Mar 21.
Interstitial deletions of 16q24.1-q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Lymphedema-Distichiasis syndrome (LDS; OMIM # 153400) is a dominant condition caused by heterozygous pathogenic variants in FOXC2. Usually, lymphedema and distichiasis occur in puberty or later on, and affected individuals typically achieve normal developmental milestones. Here, we describe a boy with congenital lymphedema, distichiasis, bilateral hydronephrosis, and global developmental delay, with a de novo microdeletion of 894 kb at 16q24.1-q24.2. This report extends the phenotype of both 16q24.1-q24.2 microdeletion syndrome and of LDS. Interestingly, the deletion involves only the 3'-UTR part of FOXC2.
16q24.1-q24.2 区的片段缺失与肺泡毛细血管发育不良、先天性肾脏畸形、神经发育障碍和先天性异常有关。淋巴管-睫毛发育不良综合征（LDS；OMIM#153400）是一种显性疾病，由 FOXC2 中的杂合致病性变异引起。通常，淋巴水肿和睫毛异常在青春期或之后出现，受影响的个体通常能达到正常的发育里程碑。在这里，我们描述了一个男孩，他患有先天性淋巴水肿、睫毛异常、双侧肾积水和全面发育迟缓，其 16q24.1-q24.2 处存在一个 894kb 的新生微缺失。本报告扩展了 16q24.1-q24.2 微缺失综合征和 LDS 的表型。有趣的是，缺失仅涉及 FOXC2 的 3'-UTR 部分。
